Traits

Traits linked to PEX16

peroxisomal biogenesis factor 16

The Human Phenotype Ontology links 122 traits to PEX16, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of movement	Very often (80–99%)
Cognitive impairment	Very often (80–99%)
Diminished deep tendon reflex	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Epilepsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Increased reflexes	Very often (80–99%)
Loss of developmental milestones	Very often (80–99%)
Profound global developmental delay	Very often (80–99%)
Severe global developmental delay	Very often (80–99%)
Abnormality of neuronal migration	Often (30–79%)
Ataxia	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Brisk reflexes	Often (30–79%)
Corpus callosum atrophy	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Loss of ability to walk	Often (30–79%)
More grooves in brain	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Babinski sign	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Clonus	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Dysesthesia	Sometimes (5–29%)
Inability to coordinate movements when walking	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Limb tremor	Sometimes (5–29%)
Peripheral demyelination	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)
Cerebellar vermis atrophy	Not recorded
Leukodystrophy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the palate	Very often (80–99%)
Depressed nasal bridge	Very often (80–99%)
Eye folds	Very often (80–99%)
Flat face	Very often (80–99%)
High forehead	Very often (80–99%)
Long, narrow head	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Wider-than-typical soft spot of skull	Very often (80–99%)
Abnormally small head	Often (30–79%)
Big calvaria	Often (30–79%)
Flat back of skull	Often (30–79%)
Flattened bony protrusion above eyes	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Abnormality of the face	Sometimes (5–29%)
Abnormality of the tongue	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Thickened skin folds of neck	Sometimes (5–29%)
Retraction of the tongue	Not recorded

Abnormality of the eye

Trait	How often it is seen
Corneal opacity	Very often (80–99%)
Cross-eyed	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Limited peripheral vision	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Rod-cone dystrophy	Very often (80–99%)
Visual impairment	Very often (80–99%)
Abnormal chorioretinal morphology	Often (30–79%)
Abnormal retinal pigmentation	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Posterior embryotoxon	Often (30–79%)
Glaucoma	Sometimes (5–29%)
Horizontal nystagmus	Sometimes (5–29%)
Speckled iris	Sometimes (5–29%)
Breakdown of light-sensitive cells in back of eye	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal skeletal development	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Progressive muscle weakness	Very often (80–99%)
Severely decreased muscle tone	Very often (80–99%)
Speckled calcifications in end part of bone	Very often (80–99%)
Frequent falls	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Abnormal shape of end part of bone	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded
Generalized low muscle tone in neonate	Not recorded
Low muscle tone, in neonatal onset	Not recorded
Spastic paraparesis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the liver	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Feeding difficulties in infancy	Very often (80–99%)
Jaundice	Very often (80–99%)
Liver failure	Very often (80–99%)
Constipation	Often (30–79%)
Malabsorption	Often (30–79%)
Pyloric stenosis	Often (30–79%)
Poor swallowing	Sometimes (5–29%)
Decreased liver function	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Enlarged clitoris	Often (30–79%)
Hydronephrosis	Often (30–79%)
Hypospadias	Often (30–79%)
Multicystic kidney dysplasia	Often (30–79%)
Undescended testes	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Very often (80–99%)
Ears rotated toward back of head	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Hearing impairment	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated levels of phytanic acid	Always
Very long chain fatty acid accumulation	Always
Laboratory abnormality	Very often (80–99%)
Elevated circulating aspartate aminotransferase concentration	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bilateral single transverse palmar creases	Often (30–79%)
Abnormal rhythmic movements of ankle	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of coagulation	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Primary adrenal insufficiency	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Ichthyosis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PEX16 and how often each is seen. Find out more at hpo.jax.org.

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